{"Name":"Hereditary orotic aciduria","DiseaseID__c":"GARD:0005429","id":5429,"encodedName":"hereditary-orotic-aciduria","IsDeleted":false,"Disease_Name_Full__c":"Hereditary orotic aciduria","Xref_IDs__c":"16242007; 47641009; C0220987; C98944; DOID:0050833; MEDGEN:472940; MONDO:0009797; OMIM:258900; ORPHA:30","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009797","Disease_Description__c":"An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.","GARD_Name__c":"Hereditary orotic aciduria","GARD_Synonym__c":"oprt and odc deficiency; orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency; orotic aciduria; orotic aciduria i; oroticaciduria; orotidylic decarboxylase deficiency; orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency; ump synthase deficiency; umps deficiency; uridine monophosphate synthase deficiency; uridine monophosphate synthetase deficiency","Curated_Disease_Description_Source__c":"GARD:0005429","Curated_Disease_Description__c":"Orotic aciduria type I (OA1), also known as hereditary orotic aciduria, is a condition characterized by elevated levels of orotic acid in the urine. It typically becomes apparent in the first months of life with megaloblastic anemia, as well as delays in physical and intellectual development. OA1 is caused by changes in the UMPS gene and inheritance is autosomal recessive. OA1 differs from other causes of orotic aciduria, which may include mitochondrial disorders, lysinuric protein intolerance, and liver disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:30","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009797","ORPHANET_ID__c":"ORPHA:30","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aciduria orótica hereditaria","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"aciduria orótica hereditaria","Spanish_GARD_Synonym__c":"deficiencia de orotidílico decarboxilasa; deficiencia de uridina monofosfato sintetasa","Category_Linearization__c":"ORPHA:68367","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Orotic aciduria type I (OA1), also known as hereditary orotic aciduria, is a condition characterized by elevated levels of orotic acid in the urine. It typically becomes apparent in the first months of life with megaloblastic anemia, as well as delays in physical and intellectual development. OA1 is caused by changes in the UMPS gene and inheritance is autosomal recessive. OA1 differs from other causes of orotic aciduria, which may include mitochondrial disorders, lysinuric protein intolerance, and liver disease.","Curated_Disease_Description_Source__c":"GARD:0005429","GARD_Synonym__c":"oprt and odc deficiency; orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency; orotic aciduria; orotic aciduria i; oroticaciduria; orotidylic decarboxylase deficiency; orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency; ump synthase deficiency; umps deficiency; uridine monophosphate synthase deficiency; uridine monophosphate synthetase deficiency","Name":"Hereditary orotic aciduria","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Human Growth Foundation","Website__c":"https://www.hgfound.org/"},{"Account_Name__c":"Restricted Growth Association","Website__c":"https://rgauk.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:30"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:30"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0268130"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005429","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050833","Source__c":"MONDO:0009797","Xref__c":"DOID:0050833"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0220987","Source__c":"C0220987","Xref__c":"C0220987"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=472940","Source__c":"C0220987","Xref__c":"MEDGEN:472940"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98944","Source__c":"C0220987; MONDO:0009797","Xref__c":"C98944"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=47641009","Source__c":"MONDO:0009797","Xref__c":"47641009"},{"URL__c":"https://www.omim.org/entry/258900","Source__c":"MONDO:0009797; ORPHA:30","Xref__c":"OMIM:258900"},{"URL__c":"https://www.orpha.net/en/disease/detail/30","Source__c":"MONDO:0009797","Xref__c":"ORPHA:30"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009797","Source__c":"GARD:0005429","Xref__c":"MONDO:0009797"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=16242007","Source__c":"C0220987","Xref__c":"16242007"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"UMPS","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:30","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:30","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of an amino acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003355","HPO_Synonym__c":"High urine amino acid levels; Hyperaminoaciduria; Increased levels of animo acids in urine","HPO_Name__c":"Aminoaciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:30","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The palpebral fissure inclination is more than two standard deviations below the mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000494","HPO_Synonym__c":"Antimongoloid eye slant; Antimongoloid slant of palpebral fissures; Antimongoloid slanted palpebral fissures; Down slanting palpebral fissures; Down-slanted palpebral fissures; Down-slanting palpebral fissure; Down-slanting palpebral fissures; Downslanting palpebral fissure; Downslanting palpebral fissures; Downward slanted palpebral fissures; Downward slanting of the opening between the eyelids; Downward slanting palpebral fissures; Downward-slanting palpebral fissures; Palpebral fissures down-slanted","HPO_Name__c":"Downslanted palpebral fissures","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:30","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:30","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased breadth of the nasal bridge (and with it, the nasal root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000431","HPO_Synonym__c":"Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge","HPO_Name__c":"Wide nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:30","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Formation of crystals owing to an increased concentration of orotic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003526","HPO_Name__c":"Orotic acid crystalluria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:30","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000069","HPO_Synonym__c":"Abnormality of the ureters; Ureter issue; Ureteral anomalies","HPO_Name__c":"Abnormality of the ureter","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:30","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001643","HPO_Synonym__c":"Ductus arteriosus; Patent ductus Botalli; PDA; Persistent arterial duct; Persistent ductus arteriosus","HPO_Name__c":"Patent ductus arteriosus","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:30","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:30","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:30","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the hip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001385","HPO_Synonym__c":"Congenital hip dysplasia; DDH; Developmental dysplasia of the hip","HPO_Name__c":"Hip dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:30","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:30","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of orotic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003218","HPO_Synonym__c":"High urine orotic acid levels; Increased urinary orotic acid concentration","HPO_Name__c":"Oroticaciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:30","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the toenail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008388","HPO_Synonym__c":"Abnormality of the toenail; Abnormality of the toenails","HPO_Name__c":"Abnormal toenail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:30","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000358","HPO_Synonym__c":"Ear, posterior angulation, increased; Ears rotated toward back of head; Posteriorly angulated ears; Posteriorly rotated; Posteriorly rotated auricles; Posteriorly-angulated ears; Posteriorly-rotated ears","HPO_Name__c":"Posteriorly rotated ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:30","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A functional anomaly of T cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011840","HPO_Synonym__c":"Abnormality of T cell physiology; Impaired T cell function","HPO_Name__c":"Abnormal T cell physiology","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Hematology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Hematology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["oprt and odc deficiency"," orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency"," orotic aciduria"," orotic aciduria i"," oroticaciduria"," orotidylic decarboxylase deficiency"," orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency"," ump synthase deficiency"," umps deficiency"," uridine monophosphate synthase deficiency"," uridine monophosphate synthetase deficiency"]}